Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785050T>A , CM000681.2:g.18785050T>A | GRCh38 |
| NC_000019.9:g.18895860T>A , CM000681.1:g.18895860T>A | GRCh37 |
| NC_000019.8:g.18756860T>A | NCBI36 |
| NG_007070.1:g.11255A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000095.3:c.1760A>T MANE Select | NP_000086.2:p.His587Leu |
| ENST00000222271.7:c.1760A>T MANE Select | ENSP00000222271.2:p.His587Leu |
| NM_000095.2:c.1760A>T | NP_000086.2:p.His587Leu |
| ENST00000222271.6:c.1760A>T | ENSP00000222271.2:p.His587Leu |
| ENST00000425807.1:c.1601A>T | ENSP00000403792.1:p.His534Leu |
| ENST00000542601.6:c.1661A>T | ENSP00000439156.2:p.His554Leu |